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	3701.	Exome Sequencing Identifies Candidate Genetic Modifiers of Syndromic and Familial Thoracic Aortic Aneurysm Severity. [electronic resource] by Landis, Benjamin J Schubert, Jeffrey A Lai, Dongbing Jegga, Anil G Shikany, Amy R Foroud, Tatiana Ware, Stephanie M Hinton, Robert B Producer: 20180717 In: Journal of cardiovascular translational research vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3702.	Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma. [electronic resource] by Blackburn, Patrick R Chacon-Camacho, Oscar F Ortiz-González, Xilma R Reyes, Mariana Lopez-Uriarte, Graciela A Zarei, Shabnam Bhoj, Elizabeth J Perez-Solorzano, Sofia Vaubel, Rachael A Murphree, Marine I Nava, Jessica Cortes-Gonzalez, Vianney Parisi, Joseph E Villanueva-Mendoza, Cristina Tirado-Torres, Iris G Li, Dong Klee, Eric W Pichurin, Pavel N Zenteno, Juan C Producer: 20191029 In: American journal of medical genetics. Part A vol. 176 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3703.	LRRTM4-C538Y novel gene mutation is associated with hereditary macular degeneration with novel dysfunction of ON-type bipolar cells. [electronic resource] by Kawamura, Yuichi Suga, Akiko Fujimaki, Takuro Yoshitake, Kazutoshi Tsunoda, Kazushige Murakami, Akira Iwata, Takeshi Producer: 20181106 In: Journal of human genetics vol. 63 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3704.	Single‑cell intratumoral stemness analysis reveals the involvement of cell cycle and DNA damage repair in two different types of esophageal cancer. [electronic resource] by Wu, Hongjin Li, Ying Hou, Qiang Zhou, Rongjin Li, Ziwei Wu, Shixiu Yu, Juehua Jiang, Mingfeng Producer: 20190815 In: Oncology reports vol. 41 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3705.	Mutant RAMP2 causes primary open-angle glaucoma via the CRLR-cAMP axis. [electronic resource] by Gong, Bo Zhang, Houbin Huang, Lulin Chen, Yuhong Shi, Yi Tam, Pancy Oi-Sin Zhu, Xianjun Huang, Yi Lei, Bo Sundaresan, Periasamy Li, Xi Jiang, Linxin Yang, Jialiang Lin, Ying Lu, Fang Chen, Lijia Li, Yuanfeng Leung, Christopher Kai-Shun Guo, Xiaoxin Zhang, Shanshan Huang, Guo Wu, Yaqi Zhou, Tongdan Shuai, Ping Tham, Clement Chee-Yung Weisschuh, Nicole Krishnadas, Subbaiah Ramasamy Mardin, Christian Reis, André Yang, Jiyun Zhang, Lin Zhou, Yu Wang, Ziyan Qu, Chao Shaw, Peter X Pang, Chi-Pui Sun, Xinghuai Zhu, Weiquan Li, Dean Yaw Pasutto, Francesca Yang, Zhenglin Producer: 20200317 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3706.	The Epigenomic Landscape of Pituitary Adenomas Reveals Specific Alterations and Differentiates Among Acromegaly, Cushing's Disease and Endocrine-Inactive Subtypes. [electronic resource] by Salomon, Matthew P Wang, Xiaowen Marzese, Diego M Hsu, Sandy C Nelson, Nellie Zhang, Xin Matsuba, Chikako Takasumi, Yuki Ballesteros-Merino, Carmen Fox, Bernard A Barkhoudarian, Garni Kelly, Daniel F Hoon, Dave S B Producer: 20191108 In: Clinical cancer research : an official journal of the American Association for Cancer Research vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3707.	Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes. [electronic resource] by Gusarova, Viktoria O'Dushlaine, Colm Teslovich, Tanya M Benotti, Peter N Mirshahi, Tooraj Gottesman, Omri Van Hout, Cristopher V Murray, Michael F Mahajan, Anubha Nielsen, Jonas B Fritsche, Lars Wulff, Anders Berg Gudbjartsson, Daniel F Sjögren, Marketa Emdin, Connor A Scott, Robert A Lee, Wen-Jane Small, Aeron Kwee, Lydia C Dwivedi, Om Prakash Prasad, Rashmi B Bruse, Shannon Lopez, Alexander E Penn, John Marcketta, Anthony Leader, Joseph B Still, Christopher D Kirchner, H Lester Mirshahi, Uyenlinh L Wardeh, Amr H Hartle, Cassandra M Habegger, Lukas Fetterolf, Samantha N Tusie-Luna, Teresa Morris, Andrew P Holm, Hilma Steinthorsdottir, Valgerdur Sulem, Patrick Thorsteinsdottir, Unnur Rotter, Jerome I Chuang, Lee-Ming Damrauer, Scott Birtwell, David Brummett, Chad M Khera, Amit V Natarajan, Pradeep Orho-Melander, Marju Flannick, Jason Lotta, Luca A Willer, Cristen J Holmen, Oddgeir L Ritchie, Marylyn D Ledbetter, David H Murphy, Andrew J Borecki, Ingrid B Reid, Jeffrey G Overton, John D Hansson, Ola Groop, Leif Shah, Svati H Kraus, William E Rader, Daniel J Chen, Yii-Der I Hveem, Kristian Wareham, Nicholas J Kathiresan, Sekar Melander, Olle Stefansson, Kari Nordestgaard, Børge G Tybjærg-Hansen, Anne Abecasis, Goncalo R Altshuler, David Florez, Jose C Boehnke, Michael McCarthy, Mark I Yancopoulos, George D Carey, David J Shuldiner, Alan R Baras, Aris Dewey, Frederick E Gromada, Jesper Producer: 20181217 In: Nature communications vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3708.	Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies. [electronic resource] by Karakaya, Mert Storbeck, Markus Strathmann, Eike A Delle Vedove, Andrea Hölker, Irmgard Altmueller, Janine Naghiyeva, Leyla Schmitz-Steinkrüger, Lea Vezyroglou, Katharina Motameny, Susanne Alawbathani, Salem Thiele, Holger Polat, Ayse Ipek Okur, Derya Boostani, Reza Karimiani, Ehsan Ghayoor Wunderlich, Gilbert Ardicli, Didem Topaloglu, Haluk Kirschner, Janbernd Schrank, Bertold Maroofian, Reza Magnusson, Olafur Yis, Uluc Nürnberg, Peter Heller, Raoul Wirth, Brunhilde Producer: 20190726 In: Human mutation vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3709.	Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy. [electronic resource] by Takata, Atsushi Nakashima, Mitsuko Saitsu, Hirotomo Mizuguchi, Takeshi Mitsuhashi, Satomi Takahashi, Yukitoshi Okamoto, Nobuhiko Osaka, Hitoshi Nakamura, Kazuyuki Tohyama, Jun Haginoya, Kazuhiro Takeshita, Saoko Kuki, Ichiro Okanishi, Tohru Goto, Tomohide Sasaki, Masayuki Sakai, Yasunari Miyake, Noriko Miyatake, Satoko Tsuchida, Naomi Iwama, Kazuhiro Minase, Gaku Sekiguchi, Futoshi Fujita, Atsushi Imagawa, Eri Koshimizu, Eriko Uchiyama, Yuri Hamanaka, Kohei Ohba, Chihiro Itai, Toshiyuki Aoi, Hiromi Saida, Ken Sakaguchi, Tomohiro Den, Kouhei Takahashi, Rina Ikeda, Hiroko Yamaguchi, Tokito Tsukamoto, Kazuki Yoshitomi, Shinsaku Oboshi, Taikan Imai, Katsumi Kimizu, Tomokazu Kobayashi, Yu Kubota, Masaya Kashii, Hirofumi Baba, Shimpei Iai, Mizue Kira, Ryutaro Hara, Munetsugu Ohta, Masayasu Miyata, Yohane Miyata, Rie Takanashi, Jun-Ichi Matsui, Jun Yokochi, Kenji Shimono, Masayuki Amamoto, Masano Takayama, Rumiko Hirabayashi, Shinichi Aiba, Kaori Matsumoto, Hiroshi Nabatame, Shin Shiihara, Takashi Kato, Mitsuhiro Matsumoto, Naomichi Producer: 20190617 In: Nature communications vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3710.	TASP1 mutation in a female with craniofacial anomalies, anterior segment dysgenesis, congenital immunodeficiency and macrocytic anemia. [electronic resource] by Balkin, Daniel M Poranki, Menitha Forester, Craig M Dorsey, Morna J Slavotinek, Anne Pomerantz, Jason H Producer: 20200619 In: Molecular genetics & genomic medicine vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3711.	Vapor Cannabis Exposure Promotes Genetic Plasticity in the Rat Hypothalamus. [electronic resource] by Brutman, Julianna N Zhang, Shuwen Choi, Pique Zhang, Yangzi Stotts, Meagan J Michal, Jennifer Jiang, Zhihua Davis, Jon F Producer: 20201030 In: Scientific reports vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3712.	COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans. [electronic resource] by Kitzler, Thomas M Schneider, Ronen Kohl, Stefan Kolvenbach, Caroline M Connaughton, Dervla M Dai, Rufeng Mann, Nina Nakayama, Makiko Majmundar, Amar J Wu, Chen-Han W Kari, Jameela A El Desoky, Sherif M Senguttuvan, Prabha Bogdanovic, Radovan Stajic, Natasa Valivullah, Zaheer Lek, Monkol Mane, Shrikant Lifton, Richard P Tasic, Velibor Shril, Shirlee Hildebrandt, Friedhelm Producer: 20190930 In: Human genetics vol. 138 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3713.	[Immunoediting eventually proven in humans. Genetics to assist immunotherapy]. [electronic resource] by David Fumet, Jean Ghiringhelli, François Producer: 20200427 In: Medecine sciences : M/S vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3714.	Comprehensive Genomic Analysis of Translocation Renal Cell Carcinoma Reveals Copy-Number Variations as Drivers of Disease Progression. [electronic resource] by Marcon, Julian DiNatale, Renzo G Sanchez, Alejandro Kotecha, Ritesh R Gupta, Sounak Kuo, Fengshen Makarov, Vladimir Sandhu, Amar Mano, Roy Silagy, Andrew W Blum, Kyle A Nassau, Daniel E Benfante, Nicole E Ortiz, Michael V Carlo, Maria I Chan, Timothy A Motzer, Robert J Voss, Martin H Coleman, Jonathan Russo, Paul Reuter, Victor Hakimi, A Ari Reznik, Ed Producer: 20211102 In: Clinical cancer research : an official journal of the American Association for Cancer Research vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3715.	Patient Decisions to Receive Secondary Pharmacogenomic Findings and Development of a Multidisciplinary Practice Model to Integrate Results Into Patient Care. [electronic resource] by Hicks, J Kevin Shealy, Amy Schreiber, Allison Coleridge, Marissa Noss, Ryan Natowicz, Marvin Moran, Rocio Moss, Timothy Erwin, Angelika Eng, Charis Producer: 20190503 In: Clinical and translational science vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3716.	Exome sequencing in the knockin mice generated using the CRISPR/Cas system. [electronic resource] by Nakajima, Kazuo Kazuno, An-A Kelsoe, John Nakanishi, Moe Takumi, Toru Kato, Tadafumi Producer: 20180618 In: Scientific reports vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3717.	Identification of transcriptome signature for predicting clinical response to bevacizumab in recurrent glioblastoma. [electronic resource] by Choi, Seung Won Shin, Hyemi Sa, Jason K Cho, Hee Jin Koo, Harim Kong, Doo-Sik Seol, Ho Jun Nam, Do-Hyun Producer: 20190906 In: Cancer medicine vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3718.	Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis. [electronic resource] by Daga, Ankana Majmundar, Amar J Braun, Daniela A Gee, Heon Yung Lawson, Jennifer A Shril, Shirlee Jobst-Schwan, Tilman Vivante, Asaf Schapiro, David Tan, Weizhen Warejko, Jillian K Widmeier, Eugen Nelson, Caleb P Fathy, Hanan M Gucev, Zoran Soliman, Neveen A Hashmi, Seema Halbritter, Jan Halty, Margarita Kari, Jameela A El-Desoky, Sherif Ferguson, Michael A Somers, Michael J G Traum, Avram Z Stein, Deborah R Daouk, Ghaleb H Rodig, Nancy M Katz, Avi Hanna, Christian Schwaderer, Andrew L Sayer, John A Wassner, Ari J Mane, Shrikant Lifton, Richard P Milosevic, Danko Tasic, Velibor Baum, Michelle A Hildebrandt, Friedhelm Producer: 20181211 In: Kidney international vol. 93 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3719.	Effective Immunological Guidance of Genetic Analyses Including Exome Sequencing in Patients Evaluated for Hemophagocytic Lymphohistiocytosis. [electronic resource] by Ammann, Sandra Lehmberg, Kai Zur Stadt, Udo Klemann, Christian Bode, Sebastian F N Speckmann, Carsten Janka, Gritta Wustrau, Katharina Rakhmanov, Mirzokhid Fuchs, Ilka Hennies, Hans C Ehl, Stephan Producer: 20180612 In: Journal of clinical immunology vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3720.	MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive [electronic resource] by Rad, Abolfazl Altunoglu, Umut Miller, Rebecca Maroofian, Reza James, Kiely N Çağlayan, Ahmet Okay Najafi, Maryam Stanley, Valentina Boustany, Rose-Mary Yeşil, Gözde Sahebzamani, Afsaneh Ercan-Sencicek, Gülhan Saeidi, Kolsoum Wu, Kaman Bauer, Peter Bakey, Zeineb Gleeson, Joseph G Hauser, Natalie Gunel, Murat Kayserili, Hulya Schmidts, Miriam Producer: 20200603 In: Journal of medical genetics vol. 56 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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